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rs1057517370

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517370(A;A)
Make rs1057517370(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position120670533
GeneHGD
is asnp
is mentioned by
dbSNPrs1057517370
dbSNP (old)rs1057517370
ClinGenrs1057517370
ebirs1057517370
HLIrs1057517370
Exacrs1057517370
Gnomadrs1057517370
Varsomers1057517370
Maprs1057517370
PheGenIrs1057517370
Biobankrs1057517370
1000 genomesrs1057517370
hgdprs1057517370
ensemblrs1057517370
gopubmedrs1057517370
geneviewrs1057517370
scholarrs1057517370
googlers1057517370
pharmgkbrs1057517370
gwascentralrs1057517370
openSNPrs1057517370
23andMers1057517370
23andMe allrs1057517370
SNPshotrs1057517370
SNPdbers1057517370
MSV3drs1057517370
GWAS Ctlgrs1057517370
Max Magnitude0
ClinVar
Risk rs1057517370(A;A)
Alt rs1057517370(A;A)
Reference Rs1057517370(G;G)
Significance Probable-Pathogenic
Disease Alkaptonuria
Variation info
Gene HGD
CLNDBN Alkaptonuria
Reversed 1
HGVS NC_000003.11:g.120389380C>T
CLNSRC
CLNACC RCV000411822.1,